Providing Information on Epilepsy Genetics

Down syndrome, also known as trisomy 21, is one of the most common severe birth defects, often accompanied by multiple organ abnormalities and developmental delays in mental growth.

Discussion on the normal values and diagnosis treatment of phenylketonuria

This article discusses the correlation between G6PD activity and thalassemia, and provides recommendations for pregnant women to undergo prenatal examinations.

Explore the treatment methods for Down syndrome, including early childhood care and treatment for mild intellectual disability, as well as the impact of modern medicine on the expected life span of patients.

Optic nerve atrophy is a common chromosomal recessive disease, with equal incidence in males and females.

Patients with galactosemia should seek medical attention promptly, avoid misconceptions, and receive symptomatic treatment.

Is Kidney Syndrome Genetic and What Are the Treatment Methods?

Down syndrome is a genetic disorder caused by a chromosomal abnormality, where individuals have an extra 21st chromosome, leading to significant intellectual disability, distinctive facial features, growth and developmental disorders, and multiple malformations. The disease has a profound impact on children, making early genetic counseling and preventive measures crucial.

Professional answers to the inheritance of Marfan syndrome across generations, especially when the father is a patient and the mother is normal. What are the chances of illness in male and female offspring? If the father’s mother is suspected to be a patient but was not diagnosed due to the underdevelopment of early medicine, will this affect the inheritance?